ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.2149G>A (p.Val717Met) (rs61753359)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080120 SCV000219116 likely benign Charcot-Marie-Tooth disease type 4 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000727143 SCV000292552 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21376300, 32376792)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000236955 SCV000603702 uncertain significance not specified 2017-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000236955 SCV000613275 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727143 SCV000706120 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727143 SCV000892022 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001114409 SCV001272289 uncertain significance Charcot-Marie-Tooth disease, type 4H 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000727143 SCV001714405 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000727143 SCV001918771 uncertain significance not provided no assertion criteria provided clinical testing

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